Andrea Superti Furga


Ontology type: schema:Person     


Person Info

NAME

Andrea

SURNAME

Superti Furga

Publications in SciGraph latest 50 shown

  • 2017-06-12 CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome in NATURE COMMUNICATIONS
  • 2017-04 Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections in GENETICS IN MEDICINE
  • 2017 The Bone in Genetic and Metabolic Diseases: A Practical Approach in INHERITED METABOLIC DISEASES
  • 2016-12 Bisphosphonates in multicentric osteolysis, nodulosis and arthropathy (MONA) spectrum disorder – an alternative therapeutic approach in SCIENTIFIC REPORTS
  • 2014-12 Multiple sulfatase deficiency with neonatal manifestation in ITALIAN JOURNAL OF PEDIATRICS
  • 2012-11 Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients in SKELETAL RADIOLOGY
  • 2010-12 Recessive multiple epiphyseal dysplasia (rMED) with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report in BMC MUSCULOSKELETAL DISORDERS
  • 2010-12 Current themes in molecular pediatrics: molecular medicine and its applications in ITALIAN JOURNAL OF PEDIATRICS
  • 2009-09 Is serum procalcitonin a reliable diagnostic marker in children with acute respiratory tract infections? A retrospective analysis in EUROPEAN JOURNAL OF PEDIATRICS
  • 2008-12 Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patient in JOURNAL OF INHERITED METABOLIC DISEASE
  • 2007-07 L1CAM mutation in a boy with hydrocephalus and duplex kidneys in PEDIATRIC NEPHROLOGY
  • 2007-02 Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2007 Angeborene Entwicklungsstörungen des Skeletts in PÄDIATRIE
  • 2007 Genetische Bindegewebskrankheiten in PÄDIATRIE
  • 2005-08 Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene in EUROPEAN JOURNAL OF PEDIATRICS
  • 2005-04 Mucolipidosis II presenting as severe neonatal hyperparathyroidism in EUROPEAN JOURNAL OF PEDIATRICS
  • 2003-12 Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-10 The painful hip: evaluation of criteria for clinical decision-making in EUROPEAN JOURNAL OF PEDIATRICS
  • 1999-06 Familial syndrome of infantile polycythemia with markedly elevated erythropoietin, severe pulmonary hypertension, and intrapulmonary hematopoiesis - an “inappropriate” hypoxic response? in PEDIATRIC RESEARCH
  • 1997-02 Heterogeneity in Schwartz-Jampel chondrodystrophic myotonia in EUROPEAN JOURNAL OF PEDIATRICS
  • 1996-11 Phenotypic and genotypic overlap between atelosteogenesis type 2 and diastrophic dysplasia in HUMAN GENETICS
  • 1996-11 Microcephaly and maternal phenylketonuria in EUROPEAN JOURNAL OF PEDIATRICS
  • 1996-04 Prevention of Disease in Glutaryl-CoA Dehydrogenase Deficiency (GDD) 859 in PEDIATRIC RESEARCH
  • 1995-03 Early signs and course of disease of glutaryl-CoA dehydrogenase deficiency in JOURNAL OF INHERITED METABOLIC DISEASE
  • 1991-05 Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation in EUROPEAN JOURNAL OF PEDIATRICS
  • 1988-08 “Cerebral” lactic acidosis and cerebrospinal fluid pH in EUROPEAN JOURNAL OF PEDIATRICS
  • 1986-10 57 A STRUCTURAL DEFECT OF TYPE III COLLAGEN CAUSING EHLERS-DANLOS SYNDROME TYPE IV in PEDIATRIC RESEARCH
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